Conditions / Immune
Omenn syndrome
info · Immune · ICD-10: D81.8
A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, a
A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
Signs and symptoms
- Spongiosis
- Absent eyelashes
- Absent eyebrow
- Seizure
- Hypoalbuminemia
- CSF pleocytosis
- Bacteremia
- Psoriasiform acanthosis
- Sepsis
- Absent natural killer cells
Also known as: combined immunodeficiency with hypereosinophilia